C1857780[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 883459	NM_001009894.3(RLIG1):c.*594T>C	CEP290, RLIG1	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 4 +4 more	GUncertain significance
Select item 881098	NM_001009894.3(RLIG1):c.*611A>G	CEP290, RLIG1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 5 +4 more	GUncertain significance
Select item 310584	NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser)	CEP290, RLIG1 (P2459S)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 310585	NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +8 more	GConflicting classifications of pathogenicity
Select item 310586	NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)	CEP290, RLIG1 (D2426N)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +10 more	GUncertain significance
Select item 310588	NM_025114.4(CEP290):c.7209+7T>G	CEP290	Single nucleotide variant (intron variant)	Meckel syndrome, type 4 +8 more	GConflicting classifications of pathogenicity
Select item 310589	NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)	CEP290 (D2396Y)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +9 more	GConflicting classifications of pathogenicity
Select item 881141	NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser)	CEP290 (P2376S)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +8 more	GUncertain significance
Select item 241587	NM_025114.4(CEP290):c.6870T>C (p.Asn2290=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +7 more	GConflicting classifications of pathogenicity
Select item 143156	NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	CEP290 (S2263G)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 881609	NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val)	CEP290 (I2232V)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +4 more	GUncertain significance
Select item 882769	NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile)	CEP290 (S2189I)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +4 more	GUncertain significance
Select item 166828	NM_025114.4(CEP290):c.6522+5dup	CEP290	Duplication (intron variant)	Nephronophthisis +11 more	GBenign
Select item 882770	NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr)	CEP290 (N2165Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 166829	NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)	CEP290 (I2134T)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +9 more	GConflicting classifications of pathogenicity
Select item 739559	NM_025114.4(CEP290):c.6358-5C>T	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +8 more	GConflicting classifications of pathogenicity
Select item 283803	NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)	CEP290 (D2039G)	Single nucleotide variant (missense variant)	CEP290-related condition +9 more	GUncertain significance
Select item 281249	NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)	CEP290 (I2000V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +11 more	GUncertain significance
Select item 310590	NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr)	CEP290 (D1948Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +5 more	GUncertain significance
Select item 882813	NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 4 +7 more	GConflicting classifications of pathogenicity
Select item 310591	NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)	CEP290 (I1922L)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +8 more	GConflicting classifications of pathogenicity
Select item 310592	NM_025114.4(CEP290):c.5709+12A>G	CEP290	Single nucleotide variant (intron variant)	Meckel syndrome, type 4 +7 more	GConflicting classifications of pathogenicity
Select item 881239	NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 4 +7 more	GConflicting classifications of pathogenicity
Select item 310593	NM_025114.4(CEP290):c.5587-8T>C	CEP290	Single nucleotide variant (intron variant)	Meckel syndrome, type 4 +4 more	GUncertain significance
Select item 310594	NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)	CEP290 (D1848G)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +7 more	GUncertain significance
Select item 261849	NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)	CEP290 (I1836V)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +9 more	GConflicting classifications of pathogenicity
Select item 700299	NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +7 more	GConflicting classifications of pathogenicity
Select item 310595	NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile)	CEP290 (V1780I)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +9 more	GUncertain significance
Select item 197085	NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	CEP290	Single nucleotide variant (synonymous variant)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 881296	NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)	CEP290 (R1762H)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 197084	NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)	CEP290 (R1762C)	Single nucleotide variant (missense variant)	CEP290-related condition +11 more	GUncertain significance
Select item 126262	NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)	CEP290 (R1746Q)	Single nucleotide variant (missense variant)	Kidney disorder +11 more	GBenign/Likely benign
Select item 136730	NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	CEP290	Single nucleotide variant (synonymous variant)	Joubert syndrome 5 +10 more	GConflicting classifications of pathogenicity
Select item 883696	NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)	CEP290 (R1729Q)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +9 more	GUncertain significance
Select item 421248	NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)	CEP290 (R1729W)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +10 more	GUncertain significance
Select item 701271	NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)	CEP290 (Q1709H)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +8 more	GConflicting classifications of pathogenicity
Select item 310597	NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly)	CEP290 (E1700G)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +4 more	GUncertain significance
Select item 166834	NM_025114.4(CEP290):c.5055G>A (p.Ala1685=)	CEP290	Single nucleotide variant (synonymous variant)	Retinal dystrophy +9 more	GConflicting classifications of pathogenicity
Select item 310598	NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp)	CEP290 (N1675D)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +4 more	GUncertain significance
Select item 310599	NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn)	CEP290 (K1618N)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +7 more	GUncertain significance
Select item 261847	NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +9 more	GConflicting classifications of pathogenicity
Select item 218802	NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)	CEP290 (H1585R)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 881846	NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val)	CEP290 (I1519V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 241584	NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)	CEP290 (I1519L)	Single nucleotide variant (missense variant)	CEP290-related condition +10 more	GUncertain significance
Select item 883013	NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)	CEP290 (R1508Q)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +10 more	GUncertain significance
Select item 282379	NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +9 more	GConflicting classifications of pathogenicity
Select item 285948	NM_025114.4(CEP290):c.4437+1G>A	CEP290	Single nucleotide variant (splice donor variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 310600	NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)	CEP290	Single nucleotide variant (synonymous variant)	CEP290-related condition +8 more	GConflicting classifications of pathogenicity
Select item 310601	NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu)	CEP290 (D1419E)	Single nucleotide variant (missense variant)	CEP290-related condition +9 more	GUncertain significance
Select item 166835	NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)	CEP290 (Q1417R)	Single nucleotide variant (missense variant)	CEP290-related condition +10 more	GConflicting classifications of pathogenicity
Select item 96172	NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	CEP290 (D1413H)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 310602	NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)	CEP290 (R1384H)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 126258	NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)	CEP290	Single nucleotide variant (synonymous variant)	not provided +10 more	GBenign/Likely benign
Select item 861323	NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)	CEP290 (R1363Q)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +9 more	GUncertain significance
Select item 310603	NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)	CEP290 (R1363W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +11 more	GConflicting classifications of pathogenicity
Select item 310604	NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)	CEP290 (R1355H)	Single nucleotide variant (missense variant)	CEP290-related condition +9 more	GUncertain significance
Select item 310605	NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr)	CEP290 (K1317T)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 310606	NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	CEP290 (R1264C)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +12 more	GConflicting classifications of pathogenicity
Select item 883152	NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe)	CEP290 (L1254F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +4 more	GUncertain significance
Select item 883153	NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 4 +7 more	GConflicting classifications of pathogenicity
Select item 126257	NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)	CEP290 (R1237H)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +8 more	GBenign
Select item 880644	NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)	CEP290 (R1237C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +8 more	GUncertain significance
Select item 196714	NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	CEP290	Single nucleotide variant (synonymous variant)	CEP290-related condition +10 more	GConflicting classifications of pathogenicity
Select item 882063	NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe)	CEP290 (S1194F)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +4 more	GUncertain significance
Select item 882064	NM_025114.4(CEP290):c.3574-9T>A	CEP290	Single nucleotide variant (intron variant)	Joubert syndrome 5 +4 more	GUncertain significance
Select item 96170	NM_025114.4(CEP290):c.3574-9del	CEP290	Deletion (intron variant)	not specified +11 more	GBenign
Select item 310607	NM_025114.4(CEP290):c.3574-15T>A	CEP290	Single nucleotide variant (intron variant)	Meckel syndrome, type 4 +7 more	GConflicting classifications of pathogenicity
Select item 136729	NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)	CEP290	Single nucleotide variant (synonymous variant)	Joubert syndrome 5 +10 more	GConflicting classifications of pathogenicity
Select item 310609	NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg)	CEP290 (Q1077R)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +8 more	GUncertain significance
Select item 880716	NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys)	CEP290 (I1059K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GUncertain significance
Select item 882117	NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val)	CEP290 (D1051V)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +4 more	GUncertain significance
Select item 195989	NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)	CEP290 (E994K)	Single nucleotide variant (missense variant)	CEP290-related condition +10 more	GConflicting classifications of pathogenicity
Select item 700166	NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)	CEP290 (S958F)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +8 more	GConflicting classifications of pathogenicity
Select item 883262	NM_025114.4(CEP290):c.2869G>A (p.Val957Ile)	CEP290 (V957I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +4 more	GUncertain significance
Select item 310610	NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly)	CEP290 (D954G)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +4 more	GUncertain significance
Select item 100594	NM_025114.4(CEP290):c.2827A>G (p.Ile943Val)	CEP290 (I943V)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +10 more	GBenign/Likely benign
Select item 126252	NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)	CEP290 (L906W)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +9 more	GBenign
Select item 697728	NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)	CEP290 (A880S)	Single nucleotide variant (missense variant)	CEP290-related condition +10 more	GConflicting classifications of pathogenicity
Select item 310611	NM_025114.4(CEP290):c.2616G>A (p.Ser872=)	CEP290	Single nucleotide variant (synonymous variant)	CEP290-related condition +9 more	GConflicting classifications of pathogenicity
Select item 100593	NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)	CEP290 (K838E)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +10 more	GBenign
Select item 569343	NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)	CEP290 (L827V)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 310612	NM_025114.4(CEP290):c.2447G>A (p.Arg816His)	CEP290 (R816H)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +8 more	GUncertain significance
Select item 880839	NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys)	CEP290 (Y783C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GUncertain significance
Select item 852603	NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)	CEP290 (I769T)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +9 more	GConflicting classifications of pathogenicity
Select item 884187	NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu)	CEP290 (S756L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +5 more	GUncertain significance
Select item 310613	NM_025114.4(CEP290):c.2217+3G>A	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 880902	NM_025114.4(CEP290):c.2216A>T (p.Lys739Met)	CEP290 (K739M)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 310614	NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)	CEP290 (E725A)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 695268	NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)	CEP290 (A697G)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 96168	NM_025114.4(CEP290):c.2055T>C (p.Ala685=)	CEP290	Single nucleotide variant (synonymous variant)	not specified +10 more	GBenign
Select item 100592	NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)	CEP290 (D664G)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +11 more	GBenign
Select item 310615	NM_025114.4(CEP290):c.1921G>C (p.Val641Leu)	CEP290 (V641L)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +8 more	GUncertain significance
Select item 310616	NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)	CEP290 (K636N)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +8 more	GConflicting classifications of pathogenicity
Select item 388113	NM_025114.4(CEP290):c.1729C>T (p.Leu577=)	CEP290	Single nucleotide variant (synonymous variant)	Joubert syndrome 5 +8 more	GConflicting classifications of pathogenicity
Select item 418122	NM_025114.4(CEP290):c.1670G>A (p.Arg557His)	CEP290 (R557H)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 136727	NM_025114.4(CEP290):c.1624-5T>C	CEP290	Single nucleotide variant (intron variant)	Kidney disorder +9 more	GConflicting classifications of pathogenicity
Select item 310618	NM_025114.4(CEP290):c.1623+10G>A	CEP290	Single nucleotide variant (intron variant)	Senior-Loken syndrome 6 +4 more	GUncertain significance
Select item 310617	NM_025114.4(CEP290):c.1623+10G>T	CEP290	Single nucleotide variant (intron variant)	Meckel syndrome, type 4 +7 more	GConflicting classifications of pathogenicity
Select item 261827	NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)	CEP290 (F520L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +9 more	GConflicting classifications of pathogenicity
Select item 310619	NM_025114.4(CEP290):c.1549T>C (p.Leu517=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 4 +8 more	GConflicting classifications of pathogenicity

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